Varaico: Literature-Extracted Genetic Variants

DYNC1H1

1,071 papers

RefSeq Summary

Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in int...

Pfam Domains

DHC_N1aa 242–832UCSCDynein heavy chain, N-terminal region 1

DHC_N2aa 1319–1720UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1868–2231UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 2423–2550UCSCDynein heavy chain AAA lid domain

AAA_7aa 2557–2739UCSCP-loop containing dynein motor region

DYN_lidaa 2751–2843UCSCDynein heavy chain, ATPase lid domain

Gene Aliases

HGNC Name

dynein cytoplasmic 1 heavy chain 1

HGNC Previous Symbols

DNECL; DNCL; DNCH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001376.5

p.R292Q

c.875G>A

Surrounding Variants

8 papers

NM_001376.5

p.R292W

c.874C>T

2 papers

NM_001376.5

p.E293K

c.877G>A

1 paper

NM_001376.5

p.Q289P

c.866A>C

1 paper

NM_001376.5

p.Q289insFs

c.865_866insA

1 paper

NM_001376.5

p.V297fs

c.889_890fs

1 paper

NM_001376.5

p.V297delFs

c.890delT

2 papers

NM_001376.5

p.R287S

c.859C>A

1 paper

NM_001376.5

p.L298V

c.892C>G

1 paper

NM_001376.5

p.L298F

c.892C>T

1 paper

NM_001376.5

p.L301L

c.901C>T

1 paper

NM_001376.5

p.L301_D302del1

c.902_904delTGG

1 paper

NM_001376.5

p.R283H

c.848G>A